Sgcd^tm1Ojml
Targeted Allele Detail

Summary

• Symbol: Sgcd^tm1Ojml
• Name: sarcoglycan, delta (dystrophin-associated glycoprotein); targeted mutation 1, Oliver J Muller
• MGI ID: MGI:5792156
• Synonyms: Sgcd^S151A
• Gene: Sgcd Location: Chr11:46861904-47880309 bp, - strand Genetic Position: Chr11, 28.09 cM, cytoband B1.2
• Alliance: Sgcd^tm1Ojml page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:234761
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: 129

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutations: Insertion, Single point mutation
• Mutation details: Exon 6 was replaced with a modified exon in which a T to G point mutation results in the amino acid substitution of alanine for serine at position 151 (S151A). This amino acid substitution is reported in patients with autosomal dominant dilated cardiomyopathy. A neomycin resistance cassette was inserted downstream of the modified exon. (J:234761)

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Sgcd Mutation: 22 strains or lines available

References

• Original: J:234761 Rutschow D, et al., S151A delta-sarcoglycan mutation causes a mild phenotype of cardiomyopathy in mice. Eur J Hum Genet. 2014 Jan;22(1):119-25
• All: 1 reference(s)